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Cellosaurus GM20734 (CVCL_5K20)

[Text version]
Cell line name GM20734
Accession CVCL_5K20
Resource Identification Initiative To cite this cell line use: GM20734 (RRID:CVCL_5K20)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9834; RAI1; Simple; p.Leu85fs*60 (c.253del19); Zygosity=Unspecified (Coriell=GM20734).
Disease Smith-Magenis syndrome (NCIt: C75469)
Smith-Magenis syndrome (ORDO: Orphanet_819)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20734
Cell line databases/resources CLO; CLO_0028979
Encyclopedic resources Wikidata; Q54851228
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number11